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    1. Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development Asian Journal of Andrology · 2024 · 2 citations
    2. Case Report: Disorder of Sex Development 46, XY with Proximal Hypospadias in a 10-Year-Old Twin Boy: Disorder of Sex Development 46, XY with Proximal Hypospadias Journal of Health, Medicine and Nursing · 2020
    3. Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants Frontiers in Genetics · 2024 · 13 citations
    4. Disorders of sex development (DSD) 46.XY due to type 2 5-α reductase deficiency in three siblings: Case report from a low-resource setting Annals of medicine and surgery · 2022
    5. Interplay between fibroblast growth factor 9 (FGF9) and CD44 underlies 46,XY disorders of sex development in Kruppel‐like factor 1 (KLF‐1)‐E325K‐associated congenital dyserythropoietic anaemia (CDA‐IV) British Journal of Haematology · 2026
    6. Disorders of Sex Development Pediatrics in review · 2021 · 4 citations
    7. The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD) Advances in laboratory medicine · 2021
    8. A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome AACE Clinical Case Reports · 2015 · 1 citations
    9. Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report American Journal of Case Reports · 2025
    10. ODP398 A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic Journal of the Endocrine Society · 2022
    11. A Teenage Girl with Unexpected Pubertal Changes Clinical chemistry · 2018 · 1 citations
    12. 46,XY DSD due to impaired androgen production 2010 · 54 citations
    13. Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome Steroids · 2019 · 1 citations
    14. 46, XY Disorder of Sexual Development with Ambiguous Female External Genitalia: A Case Report Journal of Advances in Internal Medicine · 2021
    15. Identification of a Rare Variant in the <i>SRD5A2</i> Gene in Siblings With 46,XY Disorders of Sexual Development Case Reports in Genetics · 2025
    16. Case Report: Disorder of Sexual Development in a Chinese Crested Dog With XX/XY Leukocyte Chimerism and Mixed Cell Testicular Tumors Frontiers in Veterinary Science · 2022 · 2 citations
    17. Genetic Defects of Female Sexual Differentiation Elsevier eBooks · 2016
    18. 46, XY 5-Alpha Reductase Deficiency in a 36-Year-Old Phenotypic Female Patient AACE clinical case reports · 2022 · 1 citations
    19. A case report of a novel homozygote mutation causing severe Leydig cell hypoplasia: insights in the coexistence of nonsense mutation and polymorphism in the same LHCGR gene locus Experimental and Clinical Endocrinology & Diabetes · 2012
    20. Physiology of Male Gonadotropic Axis and Disorders of Sex Development Springer eBooks · 2017
    21. Fertility counseling and preservation: considerations for the pediatric endocrinologist Translational pediatrics · 2017 · 9 citations
    22. Sex hormones and acne Clinics in dermatology · 2016 · 76 citations
    23. Biochemical and Structural Characteristics, Gene Regulation, Physiological, Pathological and Clinical Features of Lipocalin-Type Prostaglandin D2 Synthase as a Multifunctional Lipocalin Frontiers in Physiology · 2021 · 18 citations
    24. Dermatologic care of patients with differences of sex development International Journal of Women’s Dermatology · 2023 · 1 citations
    25. The diversity of sex development: What do conditions affecting sex development teach us about sexual diversity? Physiology News · 2021
    26. Sex-Chromosome-Related Dimorphism in Steroidogenic Enzymes and Androgen Receptor in Response to Testosterone Treatment: An In Vitro Study on Human Primary Skeletal Muscle Cells International journal of molecular sciences · 2023
    27. Longitudinal clinical course in patients with 5α-reductase type 2 deficiency treated with testosterone and dihydrotestosterone during infancy and puberty Endocrine journal · 2022
    28. Testosterone: The Male Sex Hormone IntechOpen eBooks · 2023
    29. Management of the Female With Non-classical Congenital Adrenal Hyperplasia (NCCAH): A Patient-Oriented Approach Frontiers in Endocrinology · 2019 · 30 citations
    30. The Role of Androgens in Health and Disease in Females: A Narratıve Review Anatolian journal of obstetrics and gynecology research. · 2025